Human Desmin

Product Overview

RecombinantHuman Desmin was expressed in E. coli.

Nature

Recombinant

Tag/Conjugate

Unconjugated

Format

Purified, Lyophilized. Reconstitute with 70ul distilled water (final volume 100ul)

Concentration

1 mg/ml (prior tolyophilization)

Buffer

Lyophilizedfrom 30mM Tris/HCl, pH 8.0 containing 9.5M urea, 2mM DTT, 2mM EDTA, and 10mMmethylammonium chloride

Preservative

None

Storage

2-8°C short term, -20°C long term

Introduction

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Antigen Description

Desminis a protein that in humans is encoded by the DES gene. Desmin is a type IIIintermediate filament found near the Z line in sarcomeres. It was firstdescribed in 1976, first purified in 1977, the gene was cloned in 1989, andthe first knock-out mouse was created in 1996. Desmin is only expressed invertebrates, however homologous proteins are found in many organisms. It is a52kD protein that is a subunit of intermediate filaments in skeletal muscletissue, smooth muscle tissue, and cardiac muscle tissue.

Keywords

DES; desmin; CSM1; CSM2; LGMD2R; mutant desmin p.K241E; intermediate filament protein;